Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GZMK Gene

Aliases for GZMK Gene

  • Granzyme K 2 3 3 5
  • Granzyme K (Serine Protease, Granzyme 3; Tryptase II) 2 3
  • Granzyme K (Granzyme 3; Tryptase II) 2 3
  • NK-Tryptase-2 3 4
  • Fragmentin-3 3 4
  • Tryptase II 2 3
  • NK-Tryp-2 3 4
  • TRYP2 3 4
  • EC 3.4.21.- 4
  • Granzyme 3 3
  • Granzyme-3 4

External Ids for GZMK Gene

Previous GeneCards Identifiers for GZMK Gene

  • GC05P054483
  • GC05P055748
  • GC05P054290
  • GC05P054335
  • GC05P054355
  • GC05P054320
  • GC05P051293

Summaries for GZMK Gene

Entrez Gene Summary for GZMK Gene

  • This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]

GeneCards Summary for GZMK Gene

GZMK (Granzyme K) is a Protein Coding gene. Diseases associated with GZMK include Charcot-Marie-Tooth Disease, X-Linked Recessive, 5. Among its related pathways are Granzyme Pathway. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is GZMA.

Gene Wiki entry for GZMK Gene

Additional gene information for GZMK Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GZMK Gene

Genomics for GZMK Gene

GeneHancer (GH) Regulatory Elements for GZMK Gene

Promoters and enhancers for GZMK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J055022 Promoter/Enhancer 0.8 EPDnew ENCODE 650.7 -0.1 -54 3.8 RFX5 ESM1 LOC102467081 GZMK GPX8 ENSG00000240535
GH05J054984 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.2 -38.5 -38455 2.1 BMI1 ZNF2 ZNF335 ZNF366 SCRT2 FOS REST ZEB2 PRDM6 CBX8 ESM1 ENSG00000249016 GZMA GZMK ENSG00000240535 GPX8
GH05J054900 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -122.1 -122074 2.7 PKNOX1 MAX STAT5A EBF1 BATF IRF4 RELA NFATC1 EED ETV6 GPX8 LOC100130990 ENSG00000249016 GZMK MIR449A MIR449B MIR449C CDC20B ENSG00000240535 SNX18
GH05J054906 Enhancer 0.7 ENCODE 10.6 -118.1 -118115 0.1 CTCF TEAD4 INSM2 RAD21 YY1 TEAD3 ZNF316 ZNF143 SMC3 NFE2 GPX8 ENSG00000249016 MIR449A MIR449B GZMK CDC20B MIR449C ENSG00000240535 LOC100130990 SNX18
GH05J054989 Enhancer 0.6 ENCODE dbSUPER 10.8 -33.2 -33218 2.2 JUN ZIC2 ENSG00000249016 GZMK ENSG00000240535 ESM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GZMK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GZMK gene promoter:
  • Nkx2-5
  • Elk-1
  • Max1
  • c-Myc
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • SRY
  • NF-kappaB

Genomic Locations for GZMK Gene

Genomic Locations for GZMK Gene
chr5:55,024,253-55,034,570
(GRCh38/hg38)
Size:
10,318 bases
Orientation:
Plus strand
chr5:54,320,081-54,330,398
(GRCh37/hg19)
Size:
10,318 bases
Orientation:
Plus strand

Genomic View for GZMK Gene

Genes around GZMK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GZMK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GZMK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GZMK Gene

Proteins for GZMK Gene

  • Protein details for GZMK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49863-GRAK_HUMAN
    Recommended name:
    Granzyme K
    Protein Accession:
    P49863
    Secondary Accessions:
    • B2R563

    Protein attributes for GZMK Gene

    Size:
    264 amino acids
    Molecular mass:
    28882 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GZMK Gene

neXtProt entry for GZMK Gene

Post-translational modifications for GZMK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GZMK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GZMK Gene

Domains & Families for GZMK Gene

Gene Families for GZMK Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GZMK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49863

UniProtKB/Swiss-Prot:

GRAK_HUMAN :
  • Belongs to the peptidase S1 family. Granzyme subfamily.
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.
genes like me logo Genes that share domains with GZMK: view

Function for GZMK Gene

Enzyme Numbers (IUBMB) for GZMK Gene

Gene Ontology (GO) - Molecular Function for GZMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 8656064
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GZMK: view
genes like me logo Genes that share phenotypes with GZMK: view

Animal Model Products

CRISPR Products

miRNA for GZMK Gene

miRTarBase miRNAs that target GZMK

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GZMK

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GZMK Gene

Localization for GZMK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GZMK Gene

Secreted. Cytoplasmic granule.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GZMK gene
Compartment Confidence
extracellular 5
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GZMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0030141 secretory granule IBA --
genes like me logo Genes that share ontologies with GZMK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GZMK Gene

Pathways & Interactions for GZMK Gene

SuperPathway Contained pathways
1 Granzyme Pathway
genes like me logo Genes that share pathways with GZMK: view

Pathways by source for GZMK Gene

1 Qiagen pathway for GZMK Gene

Gene Ontology (GO) - Biological Process for GZMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0043065 positive regulation of apoptotic process IBA --
GO:0051354 negative regulation of oxidoreductase activity IBA --
genes like me logo Genes that share ontologies with GZMK: view

No data available for SIGNOR curated interactions for GZMK Gene

Drugs & Compounds for GZMK Gene

(3) Drugs for GZMK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GZMK: view

Transcripts for GZMK Gene

mRNA/cDNA for GZMK Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GZMK Gene

Granzyme K (granzyme 3; tryptase II):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GZMK

Alternative Splicing Database (ASD) splice patterns (SP) for GZMK Gene

No ASD Table

Relevant External Links for GZMK Gene

GeneLoc Exon Structure for
GZMK
ECgene alternative splicing isoforms for
GZMK

Expression for GZMK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GZMK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GZMK Gene

This gene is overexpressed in Whole Blood (x17.6) and Spleen (x11.7).

Protein differential expression in normal tissues from HIPED for GZMK Gene

This gene is overexpressed in CD8 Tcells (21.7), Peripheral blood mononuclear cells (18.7), Tlymphocyte (12.4), and NK cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GZMK Gene



Protein tissue co-expression partners for GZMK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GZMK Gene:

GZMK

SOURCE GeneReport for Unigene cluster for GZMK Gene:

Hs.277937

mRNA Expression by UniProt/SwissProt for GZMK Gene:

P49863-GRAK_HUMAN
Tissue specificity: Expressed in lung, spleen, thymus and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for GZMK Gene

  • Blood(4.5)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with GZMK: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GZMK Gene

Orthologs for GZMK Gene

This gene was present in the common ancestor of chordates.

Orthologs for GZMK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GZMK 34 33
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GZMK 34 33
  • 81.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GZMK 34 33
  • 80.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gzmk 33
  • 78.44 (n)
mouse
(Mus musculus)
Mammalia Gzmk 16 34 33
  • 78.29 (n)
chicken
(Gallus gallus)
Aves GZMK 34
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gzma 34 33
  • 52.12 (n)
OneToMany
gzmk 34
  • 36 (a)
OneToMany
Species where no ortholog for GZMK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GZMK Gene

ENSEMBL:
Gene Tree for GZMK (if available)
TreeFam:
Gene Tree for GZMK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GZMK: view image

Paralogs for GZMK Gene

Paralogs for GZMK Gene

genes like me logo Genes that share paralogs with GZMK: view

Variants for GZMK Gene

Sequence variations from dbSNP and Humsavar for GZMK Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000210696 -- 55,022,365(+) A/G upstream_transcript_variant
rs1000452940 -- 55,026,289(+) A/G intron_variant
rs1000602596 -- 55,029,659(+) T/C intron_variant
rs1000817616 -- 55,024,053(+) G/A upstream_transcript_variant
rs1001166469 -- 55,023,859(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GZMK Gene

Variant ID Type Subtype PubMed ID
nsv830301 CNV gain 17160897

Variation tolerance for GZMK Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GZMK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GZMK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GZMK Gene

Disorders for GZMK Gene

MalaCards: The human disease database

(1) MalaCards diseases for GZMK Gene - From: DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, x-linked recessive, 5
  • cmtx5
- elite association - COSMIC cancer census association via MalaCards
Search GZMK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GZMK

genes like me logo Genes that share disorders with GZMK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GZMK Gene

Publications for GZMK Gene

  1. Cloning of cDNA for human granzyme 3. (PMID: 7758581) Przetak MM … Schmidt BF (FEBS letters 1995) 2 3 4 22 58
  2. The 2.2-A crystal structure of human pro-granzyme K reveals a rigid zymogen with unusual features. (PMID: 12384499) Hink-Schauer C … Jenne DE (The Journal of biological chemistry 2002) 3 4 22 58
  3. Cloning and expression of a second human natural killer cell granule tryptase, HNK-Tryp-2/granzyme 3. (PMID: 8656064) Sayers TJ … Smyth MJ (Journal of leukocyte biology 1996) 3 4 22 58
  4. Purification of three cytotoxic lymphocyte granule serine proteases that induce apoptosis through distinct substrate and target cell interactions. (PMID: 1460416) Shi L … Greenberg AH (The Journal of experimental medicine 1992) 3 4 22 58
  5. Granzyme K displays highly restricted substrate specificity that only partially overlaps with granzyme A. (PMID: 19059912) Bovenschen N … Kummer JA (The Journal of biological chemistry 2009) 3 22 58

Products for GZMK Gene

Sources for GZMK Gene

Content
Loading form....